Clinical Neuropathology最新文献

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Rare encounter of spinal atypical teratoid/rhabdoid tumor in an adult: A case report and review of clinicopathological diagnostic pitfalls. 罕见的成人脊柱非典型畸胎瘤/横纹肌样肿瘤:一例报告和临床病理诊断缺陷的回顾。
IF 0.8 4区 医学
Clinical Neuropathology Pub Date : 2025-10-09 DOI: 10.5414/NP301707
Naveen Kumar R, Alexandra Kristin Mawlong, Tamajyoti Ghosh, Vandana Raphael, Pranjal Kalita, Biswajit Dey, Sumanta Das
{"title":"Rare encounter of spinal atypical teratoid/rhabdoid tumor in an adult: A case report and review of clinicopathological diagnostic pitfalls.","authors":"Naveen Kumar R, Alexandra Kristin Mawlong, Tamajyoti Ghosh, Vandana Raphael, Pranjal Kalita, Biswajit Dey, Sumanta Das","doi":"10.5414/NP301707","DOIUrl":"10.5414/NP301707","url":null,"abstract":"<p><p>Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive embryonal tumor that most commonly affects young children, with primary spinal involvement being exceedingly rare in adults. We highlight a rare case of a 26-year-old female who presented with paraparesis and was found to have a well-defined, homogeneously enhanced intradural extramedullary lesion at the D9 - D10 level on magnetic resonance imaging (MRI), initially suggestive of a benign nerve sheath tumor. Surgical excision followed by histopathological evaluation revealed undifferentiated tumor cells arranged in nests and cords within a hyalinized stroma. Immunohistochemistry demonstrated strong glial fibrillary acidic protein (GFAP) and focal epithelial membrane antigen (EMA) positivity, CD99 positivity, and complete loss of SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily B, member 1 (SMARCB1) integrase interactor 1 (INI1) expression in tumor cells, confirming the diagnosis of AT/RT. The lesion lacked hemorrhage or necrosis, adding to its benign radiological mimicry. This case highlights the diagnostic pitfalls in adult spinal AT/RT, especially when radiological findings overlap with benign tumor and histological features overlap with other small round cell tumors such as Ewing sarcoma, metastatic carcinoma, or CIC-rearranged sarcomas. The distinct nested and cord-like architecture observed in this case broadens the familiar histopathological spectrum of AT/RT. The patient received postoperative radiotherapy, and emerging data suggest potential benefit from multimodal approaches including surgery, radiotherapy, chemotherapy, and targeted therapies such as mechanistic target of rapamycin (mTOR), enhancer of zeste homolog 2 (EZH2), and cyclin dependent kinase 4/6 (CDK4/6) inhibitors. This report stresses the need to consider AT/RT in the differential diagnosis of adult intradural extramedullary spinal lesions and reinforces the diagnostic utility of SMARCB1 (INI1) immunohistochemistry. Molecular subtyping may further guide therapeutic decisions and improve prognostication in this rare and challenging tumor.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Neuropathology 5-2025. 临床神经病理学5-2025。
IF 0.8 4区 医学
Clinical Neuropathology Pub Date : 2025-10-08 DOI: 10.5414/NPP44179
Christian Mawrin
{"title":"Clinical Neuropathology 5-2025.","authors":"Christian Mawrin","doi":"10.5414/NPP44179","DOIUrl":"10.5414/NPP44179","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Toxoplasmic ventriculitis with obstructive hydrocephalus in patient with AIDS: Case report with review of literature. 艾滋病患者伴阻塞性脑积水的弓形虫脑室炎1例并文献复习。
IF 0.8 4区 医学
Clinical Neuropathology Pub Date : 2025-09-04 DOI: 10.5414/NP301701
Rangasamy Thiruvengadam Rajeswarie, Valakunja Harikrishna Ganaraj, Manjunath Netravathi, Jitendra Saini, Anita Mahadevan
{"title":"Toxoplasmic ventriculitis with obstructive hydrocephalus in patient with AIDS: Case report with review of literature.","authors":"Rangasamy Thiruvengadam Rajeswarie, Valakunja Harikrishna Ganaraj, Manjunath Netravathi, Jitendra Saini, Anita Mahadevan","doi":"10.5414/NP301701","DOIUrl":"10.5414/NP301701","url":null,"abstract":"<p><p>Toxoplasmosis is a common opportunistic infection in immunocompromised patients. Cerebral toxoplasmosis can be the initial manifestation of acquired immunodeficiency syndrome (AIDS). We report a case diagnosed at autopsy as the primary presentation of an undiagnosed human immunodeficiency virus (HIV)-positive patient. Histological examination revealed a prominent rim of periventricular necrosis involving the frontal, temporal, and occipital horns of the lateral ventricle, third and fourth ventricle. The ependymal lining was denuded with numerous encysted bradyzoites and scattered tachyzoites of Toxoplasma dispersed in the necro-inflammatory areas. Hydrocephalus due to cerebral toxoplasmic ventriculitis is very rare in adults. Mortality was significantly higher in cases with ventriculitis as compared to patients with only hydrocephalus due to mass lesions. Choroid plexus involvement in toxoplasmic ventriculitis could indicate a hematogenous spread from reactivation of latent systemic infection rather than reactivation of latent brain lesion. This case report emphasizes the importance of evaluation of HIV status in the presence of complex periventricular enhancement and the importance of a high degree of clinical suspicion for toxoplasmic ventriculitis in HIV patients with hydrocephalus, as an early institution of empirical anti-toxoplasma treatment could play a crucial role in cure.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144994565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spreading pattern of phosphorylated tau-positive granular glial pathology in the cerebral white matter of patients with multiple system atrophy. 多系统萎缩患者脑白质中磷酸化tau阳性颗粒胶质病理的扩散模式。
IF 0.8 4区 医学
Clinical Neuropathology Pub Date : 2025-09-01 DOI: 10.5414/NP301689
Taku Homma, Yoko Mochizuki, Shinsuke Tobisawa, Keisuke Ishizawa, Kazushi Takahashi, Takashi Komori
{"title":"Spreading pattern of phosphorylated tau-positive granular glial pathology in the cerebral white matter of patients with multiple system atrophy.","authors":"Taku Homma, Yoko Mochizuki, Shinsuke Tobisawa, Keisuke Ishizawa, Kazushi Takahashi, Takashi Komori","doi":"10.5414/NP301689","DOIUrl":"https://doi.org/10.5414/NP301689","url":null,"abstract":"<p><p>Multiple system atrophy (MSA) is a major neurodegenerative disorder characterized by phosphorylated α-synuclein-positive oligodendroglial cytoplasmic inclusions. The presence of phosphorylated τ-positive granular glia (pTGrG) in the cerebral white matter and putamen has recently been reported, and it has been suggested that pTGrG pathology may be a common pathological feature of MSA. However, its spreading pattern and relationship with clinical features remain unclear. We examined the spreading pattern of pTGrG pathology and the clinical factors associated with it. The middle frontal, precentral, and middle temporal gyri, as well as the inferior parietal lobule and occipital lobe were histopathologically examined in 14 patients with clinicopathologically confirmed MSA. A distinct spreading pattern of pTGrG pathology was revealed, initially detected in the precentral white matter and subsequently extending to the parietal, frontotemporal, and occipital white matter. The severity of pTGrG pathology significantly correlated with disease duration and tracheostomy duration, but was not associated with any clinical MSA subtype or with dementia. The findings suggest that pTGrG is a common pathological feature of MSA with a unique spreading pattern, and with correlations to duration of disease and tracheostomy, thereby highlighting its potential as a biomarker for disease progression.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144979400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Seronegative pachymeningitis. 血清反应阴性的硬脑膜炎。
IF 0.8 4区 医学
Clinical Neuropathology Pub Date : 2025-08-08 DOI: 10.5414/NP301687
Bette K Kleinschmidt-DeMasters
{"title":"Seronegative pachymeningitis.","authors":"Bette K Kleinschmidt-DeMasters","doi":"10.5414/NP301687","DOIUrl":"10.5414/NP301687","url":null,"abstract":"<p><strong>Background: </strong>Surgical pathology specimens from patients with hypertrophic pachymeningitis are infrequently encountered. After excluding infectious and neoplastic causes, autoimmune conditions should be considered, especially neurosarcoidosis, rheumatoid arthritis, granulomatosis with polyangiitis (GPA), and IgG4-related disease (IgG4-RD) before the case is designated \"idiopathic\". However, even if histological findings strongly favor one of these conditions, clinical and serological correlation is mandatory. Further complicating the issue is evolving thinking that suggests there may be overlap between GPA and IgG4-RD.</p><p><strong>Materials and methods: </strong>We report clinical, histological, serological, and follow-up data on 2 seronegative cases of pachymeningitis with histological features identical to GPA, providing comparison with a seropositive pachymeningitis case from the author's files.</p><p><strong>Results: </strong>Two men, ages 73 and 75 years, presented with blurred vision and focal seizures, respectively; neuroimaging revealed dural thickening. Surgical resection specimens of hypertrophic dura proved histologically identical to GPA, with extensive non-storiform fibrosis, dense lymphoplasmacytic and histiocytic infiltrates, multinucleated giant cells, and dirty necrosis. Tumor, rheumatoid nodules with palisading histiocytes, and small compact granulomas were absent; stains for microorganisms were negative. Case 2 additionally showed medium-sized vessel vasculitis with fragmented elastic lamina, as seen in GPA. IgG4 cells were increased in each (170/HPF, IgG4 : IgG ratio = 26%, 65/HPF, IgG4 : IgG ratio = 10 - 15%), respectively.</p><p><strong>Conclusion: </strong>Hypertrophic pachymeningitis cases are challenging. Pathologists should offer likely differential diagnoses based on histological features, but refrain from rendering a definitive diagnosis pending clinical-serological correlation. Whether seronegative examples represent a GPA variant, a new disease, or, in the case of high IgG4+ cells, two coincident disorders is unknown.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Influence of clinical and histological criteria on meningioma recurrence: The decisive role of Ki-67. 临床及组织学标准对脑膜瘤复发的影响:Ki-67的决定性作用。
IF 0.8 4区 医学
Clinical Neuropathology Pub Date : 2025-07-30 DOI: 10.5414/NP301681
Henri Salle, Stéphanie Durand, Mathilde Duchesne, Leslie Lemnos, Antonio Jorquera, Isabelle Pommepuy, Sandrine Robert, Alain Chaunavel, Julien Engelhardt, Wassim Khalil, François Caire, Karine Durand, François Labrousse
{"title":"Influence of clinical and histological criteria on meningioma recurrence: The decisive role of Ki-67.","authors":"Henri Salle, Stéphanie Durand, Mathilde Duchesne, Leslie Lemnos, Antonio Jorquera, Isabelle Pommepuy, Sandrine Robert, Alain Chaunavel, Julien Engelhardt, Wassim Khalil, François Caire, Karine Durand, François Labrousse","doi":"10.5414/NP301681","DOIUrl":"10.5414/NP301681","url":null,"abstract":"<p><strong>Objective: </strong>The risk of meningioma recurrence depends mainly on the extent of resection and tumor grade. In a series of 196 meningiomas, we investigated the influence of clinical and histopathological criteria and sought to identify simple and reproducible criteria associated with meningioma recurrence.</p><p><strong>Materials and methods: </strong>Clinical data (age, sex, location), preoperative embolization (POE), presence of peritumoral edema, Simpson grade, histological grade and histopathological parameters (Ki-67 index labeling index (LI), mitotic index, hypercellularity, small cells, prominent nucleoli, sheeting pattern, necrosis, nuclear atypia, microvascular proliferation as well as infiltration of the dura mater, bone and brain), and dura mater were collected. The prognostic value of each parameter for recurrence-free survival (RFS) was assessed using the Kaplan-Meier method and log-rank test. Multivariate analysis was carried out using a Cox regression model on single features identified by univariate analysis.</p><p><strong>Results: </strong>The Ki-67 LI was the factor most strongly associated with recurrence. In multivariate analysis, independent factors for shorter RFS were male sex, subtotal resection, and a Ki-67 LI > 5%, which was the most significant factor. In addition, a Ki-67 LI > 5% was strongly associated with shorter RFS (p = 9.79e-05) for grade 1 meningiomas in multivariate analysis. Ki-67 LI assessment and POE did not modify the Ki-67 LI evaluation.</p><p><strong>Conclusion: </strong>Importantly, for grade 1 meningiomas, which are tumors that lack histological criteria for aggressiveness, a Ki-67 > 5% is a predictive factor for recurrence. These data, which are easy to collect and reproduce, could be used in practice to select patients who would benefit from closer clinical follow-up or to identify tumors requiring further molecular analysis at the time of first surgery.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ALK-positive histiocytosis with isolated central nervous system involvement: Report of two cases and review of a newly described entity. alk阳性组织细胞增多症伴孤立的中枢神经系统受累:两例报告和一种新描述实体的回顾。
IF 0.8 4区 医学
Clinical Neuropathology Pub Date : 2025-07-11 DOI: 10.5414/NP301688
Amudhakumar Janani, Sathyakumar Rima, Elumalai Hemnath, Kavin K Devani, Vikas Vazhayil, Gyani Jail Singh Birua, Bevinahalli N Nandeesh
{"title":"ALK-positive histiocytosis with isolated central nervous system involvement: Report of two cases and review of a newly described entity.","authors":"Amudhakumar Janani, Sathyakumar Rima, Elumalai Hemnath, Kavin K Devani, Vikas Vazhayil, Gyani Jail Singh Birua, Bevinahalli N Nandeesh","doi":"10.5414/NP301688","DOIUrl":"10.5414/NP301688","url":null,"abstract":"<p><p>Anaplastic lymphoma kinase (ALK)-positive histiocytosis is a novel and rare entity commonly described as a systemic disease affecting infants, while isolated systemic involvement including the central nervous system (CNS) have been reported in older children and young adults. We report 2 cases of CNS ALK-positive histiocytosis, with detailed histopathological and radiological information, and provide a review of literature. Two patients, a child and a young adult, presented with extra-axial mass lesion. The radiological differentials considered were meningioma and schwannoma. The histopathological examination of both cases showed sheets of cells resembling histiocytes admixed with scattered Touton-type and foreign body giant cells. These tumors do not have any distinct diagnostic radiological, features and hence histopathological examination is crucial in the diagnosis of these tumors. The cells were immunopositive for CD68, CD163, and ALK. Understanding the histopathological spectrum of ALK-positive histiocytosis is important as targeted therapy (ALK inhibitor therapy) exists and the prognosis is better.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of 10q loss, CDKN2A deletions, EGFR amplification, and trisomy of chromosome 7 in the overall survival of IDH-mutant astrocytoma. 10q缺失、CDKN2A缺失、EGFR扩增和7号染色体三体对idh突变型星形细胞瘤总生存期的影响
IF 0.8 4区 医学
Clinical Neuropathology Pub Date : 2025-07-01 DOI: 10.5414/NP301667
Mónica B Mezmezian, Naomi Arakaki, Blanca Diez, Horacio Martinetto, Gustavo Sevlever
{"title":"Impact of 10q loss, <i>CDKN2A</i> deletions, <i>EGFR</i> amplification, and trisomy of chromosome 7 in the overall survival of IDH-mutant astrocytoma.","authors":"Mónica B Mezmezian, Naomi Arakaki, Blanca Diez, Horacio Martinetto, Gustavo Sevlever","doi":"10.5414/NP301667","DOIUrl":"10.5414/NP301667","url":null,"abstract":"<p><strong>Introduction: </strong>Since progression from grade 2 to grade 4 occurs in the evolution of IDH-mutant astrocytoma (A, IDH-mut), it is crucial to identify the key factors that define the different grades.</p><p><strong>Aims: </strong>To evaluate the impact on overall survival (OS) of molecular alterations traditionally associated with high-grade gliomas within the grading scheme.</p><p><strong>Materials and methods: </strong>We retrospectively analyzed the role of 10q loss, <i>CDKN2A</i> deletions, <i>EGFR</i> amplification (Amp), and trisomy of chromosome 7 (trisomy 7) in 189 A, IDH-mut, reclassified according to the WHO 2021 criteria (grade 2, n = 133; grade 3, n = 18; grade 4, n = 38).</p><p><strong>Results: </strong>Among the 189 cases, 29 presented with <i>CDKN2A</i> hemizygous deletion (hemidel), 17 with <i>CDKN2A</i> homozygous deletion, 18 showed trisomy 7, and 2 showed <i>EGFR</i> Amp. A multivariate test revealed that WHO grade 4 and trisomy 7 significantly impacted OS. <i>CDKN2A</i> hemidel and 10q loss did not influence OS in our cohort. Given that 11 out of 18 cases with trisomy 7 were IDH-mutant grade 2 (G2), we compared G2 cases with and without trisomy 7 and found worse OS in cases with trisomy (p = 0.0034), similar to WHO grade 4.</p><p><strong>Conclusion: </strong>Our results suggest that trisomy 7 plays a significant role in the OS of A, IDH-mut. Further research is needed to determine whether trisomy 7 is an independent marker or if it is associated with other molecular alterations that affect OS.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"136-142"},"PeriodicalIF":0.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144113112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intracranial mesenchymal tumor with EWSR1-rearrangement (FET::CREB family): A case series with clinico-radiological and pathological correlation and review of literature. 颅内间充质肿瘤伴ewsr1重排(FET::CREB家族):临床、影像学及病理相关病例分析及文献复习
IF 0.8 4区 医学
Clinical Neuropathology Pub Date : 2025-07-01 DOI: 10.5414/NP301682
Moiom H Phom, Sumanta Das, Bheru Dan Charan, Vaishali Suri, Saumya Sahu, Ajay Garg, Sachin Borkar, Ashish Suri, Mehar Chand Sharma
{"title":"Intracranial mesenchymal tumor with EWSR1-rearrangement (FET::CREB family): A case series with clinico-radiological and pathological correlation and review of literature.","authors":"Moiom H Phom, Sumanta Das, Bheru Dan Charan, Vaishali Suri, Saumya Sahu, Ajay Garg, Sachin Borkar, Ashish Suri, Mehar Chand Sharma","doi":"10.5414/NP301682","DOIUrl":"10.5414/NP301682","url":null,"abstract":"<p><p>Intracranial mesenchymal tumors with female expressed transcript::cyclic AMP responsive element binding protein (FET::CREB) fusion, characterized by Ewing sarcoma breakpoint region 1/EWS RNA binding protein 1 (EWSR1) rearrangements, represent a rare and complex category of neoplasms with varied morphologies and significant diagnostic challenges. These tumors commonly occur in young adults, presenting as dural-based masses with solid and cystic components on radiological imaging, often mimicking meningioma. Histopathologically, they exhibit a spectrum of features, including spindle, stellate, and epithelioid cells within myxoid or collagenous stroma, occasionally with hemangioma-like vasculature or chronic inflammatory infiltrates. Immunohistochemistry typically reveals strong positivity for cluster of differentiation 99 (CD99) and epithelial membrane antigen (EMA), with variable expression of Desmin, S100, and MUCIN 4 (MUC4). Molecular studies confirm EWSR1 rearrangements via fluorescence in situ hybridization (FISH), while RNA sequencing further elucidates specific fusion partners, such as cyclic AMP response element binding protein (CREB)1 or ATF1. Differential diagnosis includes solitary fibrous tumors, inflammatory myofibroblastic tumors, and chordoid meningiomas, necessitating thorough morphological and immunohistochemical analysis. Emerging genomic profiling divides these tumors into two epigenetic subgroups with distinct molecular and clinical profiles, influencing prognosis and progression-free survival. This case series highlights five instances of such tumors, underscoring the importance of recognizing their unique histopathological and molecular characteristics for accurate diagnosis. While the study employed FISH for cost-effective analysis, the absence of RNA sequencing limits identification of fusion partners. Overall, the study contributes valuable insights into these rare tumors, advancing understanding of their pathology and potential clinical implications.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"159-168"},"PeriodicalIF":0.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinico-pathological and molecular characteristics of pediatric-juvenile pituitary neuroendocrine tumors (PitNETs): A mono-institutional series. 儿童-青少年垂体神经内分泌肿瘤(PitNETs)的临床病理和分子特征:一个单一的机构系列。
IF 0.8 4区 医学
Clinical Neuropathology Pub Date : 2025-07-01 DOI: 10.5414/NP301685
Anna Maria Buccoliero, Laura Giunti, Abramo Ponticelli, Lorenzo Innocenti, Franco Ricci, Valentina Cetica, Bianca Tirinnanzi, Selene Moscardi, Stefano Stagi, Iacopo Sardi, Federico Mussa, Lorenzo Genitori, Mirko Scagnet
{"title":"Clinico-pathological and molecular characteristics of pediatric-juvenile pituitary neuroendocrine tumors (PitNETs): A mono-institutional series.","authors":"Anna Maria Buccoliero, Laura Giunti, Abramo Ponticelli, Lorenzo Innocenti, Franco Ricci, Valentina Cetica, Bianca Tirinnanzi, Selene Moscardi, Stefano Stagi, Iacopo Sardi, Federico Mussa, Lorenzo Genitori, Mirko Scagnet","doi":"10.5414/NP301685","DOIUrl":"10.5414/NP301685","url":null,"abstract":"<p><p>Our purpose was to provide a clinical-pathological overview, evaluate the prognostic value of Ki-67 and p53 in pediatric-juvenile pituitary neuroendocrine tumors (PitNETs) and explore the incidence of somatic variants in SF3B1 in pediatric-juvenile lactotroph PitNET. We present a clinical, morphological, immunohistochemical, and molecular study of 30 patients aged 8 - 20 years (16 females, 53%; 14 males, 47%). Clinical data were available for 21 patients (70%). Nine patients (43%) had mass effect symptoms. Imaging was available for 25 cases (83%). 21 patients (84%) had macro-PitNET or giant PitNET. Most tumors were lactotroph PitNETs (22 cases, 73%). Nine patients out of 22 lactotroph PitNET (41%) were male. Ki-67 and p53 immunostaining were performed in 27 cases. 15 tumors (56%) were p53 positive and exhibited a high Ki-67 index. Of these, 12 tumors (80%) were macro-PitNETs or giant PitNETs. Eight tumors (30%) were p53 negative and had low Ki-67 index, with 5 of these classified as macro-PitNETs (100% of the cases for which this data was available). Genetic analysis of the recurrent <i>SF3B1</i> c.1874G>A p.Arg625His was negative in all 15 tested tumors. In conclusion, pediatric-juvenile PitNETs are often large lesions causing mass effects in almost half of the cases. In our cohort, lactotroph PitNETs were the most frequent PitNETs and present without sex predilection. <i>SF3B1</i> mutations, documented in a proportion of adult lactotroph PitNETs, were not observed in our cohort, potentially hinting at a different molecular background. Our results did not reveal any association between Ki-67 and p53 status and tumor size or invasiveness in pediatric-juvenile PitNETs.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"143-152"},"PeriodicalIF":0.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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